Von Willebrand disease type 2M: Correlation between genotype and phenotype.

ABSTRACT:

Background

An appropriate clinical diagnosis of von Willebrand disease (VWD) can be challenging because of a variable bleeding pattern and laboratory phenotype. Genotyping is a powerful diagnostic tool and may have an essential role in the diagnostic field of VWD.

Objectives

To unravel the clinical and laboratory heterogeneity of genetically confirmed VWD type 2M patients and to investigate their relationship.

Methods

Patients with a confirmed VWD type 2M genetic variant in the A1 or A3 domain of von Willebrand factor (VWF) and normal or only slightly aberrant VWF multimers were selected from all subjects genotyped at the Radboud university medical center because of a high suspicion of VWD. Bleeding scores and laboratory results were analyzed.

Results

Fifty pat

SUBMITTER: Maas DPMSM 

PROVIDER: S-EPMC9299039 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature